STIM1
Musculoskeletal System · Excitation-Contraction Coupling
How does a cell notice that its calcium stores are running low?
STIM1 makes a protein that helps control calcium entry when internal stores are depleted. This replenishment supports calcium-dependent signaling across several types of cells.
- Common Gene Name
- stromal interaction molecule 1
- NCBI Gene ID
- 6786
- Chromosome
- 11
Clinical Evidence Status
Established disease relationship
These labels describe available evidence about a gene. They do not classify your variant or recommend a treatment.
Answer Sources
Explore supporting evidence (3 records)
| Condition or drug | Evidence | Grade / status | Context | Source |
|---|---|---|---|---|
| tubular aggregate myopathy | ClinGen gene-disease validity | Definitive | Autosomal dominant | View source 2021-04-01 |
| combined immunodeficiency due to STIM1 deficiency | ClinGen gene-disease validity | Definitive | Autosomal recessive | View source 2025-08-21 |
| Stormorken syndrome | MedlinePlus related condition | Association type varies; no grade assigned here | View source 2014-09 |
Source snapshot: 2026-09-09. Consumer text updated: 2026-09-10. Source dates describe the cited records, not a new clinical review.
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